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GDF6 growth differentiation factor 6

Also known as: KFM; KFS; KFS1; KFSL; SGM1; BMP13; CDMP2; BMP-13

Summary

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016]

Genomic context

Location:
8q22.1
Sequence:
Chromosome: 8; NC_000008.11 (96142330..96160792, complement)
Total number of exons:
2

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